Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004854514 | Breast | IDC | response to steroid hormone | 70/1434 | 339/18723 | 1.34e-14 | 4.23e-12 | 70 |
GO:003196013 | Breast | IDC | response to corticosteroid | 37/1434 | 167/18723 | 3.10e-09 | 2.63e-07 | 37 |
GO:005138413 | Breast | IDC | response to glucocorticoid | 32/1434 | 148/18723 | 6.52e-08 | 4.07e-06 | 32 |
GO:006219714 | Breast | IDC | cellular response to chemical stress | 55/1434 | 337/18723 | 7.07e-08 | 4.36e-06 | 55 |
GO:007138314 | Breast | IDC | cellular response to steroid hormone stimulus | 35/1434 | 204/18723 | 5.29e-06 | 1.75e-04 | 35 |
GO:005067313 | Breast | IDC | epithelial cell proliferation | 60/1434 | 437/18723 | 7.13e-06 | 2.15e-04 | 60 |
GO:005067812 | Breast | IDC | regulation of epithelial cell proliferation | 54/1434 | 381/18723 | 8.07e-06 | 2.39e-04 | 54 |
GO:190165414 | Breast | IDC | response to ketone | 33/1434 | 194/18723 | 1.17e-05 | 3.13e-04 | 33 |
GO:007121413 | Breast | IDC | cellular response to abiotic stimulus | 48/1434 | 331/18723 | 1.37e-05 | 3.53e-04 | 48 |
GO:010400413 | Breast | IDC | cellular response to environmental stimulus | 48/1434 | 331/18723 | 1.37e-05 | 3.53e-04 | 48 |
GO:005134814 | Breast | IDC | negative regulation of transferase activity | 39/1434 | 268/18723 | 7.89e-05 | 1.56e-03 | 39 |
GO:00434348 | Breast | IDC | response to peptide hormone | 54/1434 | 414/18723 | 8.25e-05 | 1.61e-03 | 54 |
GO:00303244 | Breast | IDC | lung development | 28/1434 | 177/18723 | 1.90e-04 | 3.15e-03 | 28 |
GO:00303234 | Breast | IDC | respiratory tube development | 28/1434 | 181/18723 | 2.78e-04 | 4.26e-03 | 28 |
GO:00605412 | Breast | IDC | respiratory system development | 30/1434 | 203/18723 | 3.85e-04 | 5.40e-03 | 30 |
GO:00703713 | Breast | IDC | ERK1 and ERK2 cascade | 43/1434 | 330/18723 | 4.28e-04 | 5.84e-03 | 43 |
GO:007136413 | Breast | IDC | cellular response to epidermal growth factor stimulus | 11/1434 | 45/18723 | 4.57e-04 | 6.13e-03 | 11 |
GO:00459369 | Breast | IDC | negative regulation of phosphate metabolic process | 53/1434 | 441/18723 | 7.21e-04 | 8.79e-03 | 53 |
GO:00105639 | Breast | IDC | negative regulation of phosphorus metabolic process | 53/1434 | 442/18723 | 7.60e-04 | 9.25e-03 | 53 |
GO:007147011 | Breast | IDC | cellular response to osmotic stress | 10/1434 | 41/18723 | 8.38e-04 | 9.79e-03 | 10 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
ERRFI1 | SNV | Missense_Mutation | rs750025751 | c.777N>C | p.Lys259Asn | p.K259N | Q9UJM3 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-D8-A1X6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
ERRFI1 | insertion | Frame_Shift_Ins | novel | c.86dupT | p.Met29IlefsTer11 | p.M29Ifs*11 | Q9UJM3 | protein_coding | | | TCGA-A8-A06O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | letrozole | SD |
ERRFI1 | insertion | Frame_Shift_Ins | novel | c.84_85insCCTCCTCCACCTCAGACCCACCGAAGATTAAGAAGGTCTC | p.Met29ProfsTer24 | p.M29Pfs*24 | Q9UJM3 | protein_coding | | | TCGA-A8-A06O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | letrozole | SD |
ERRFI1 | insertion | Frame_Shift_Ins | novel | c.147_148insTTCTA | p.Ile50PhefsTer2 | p.I50Ffs*2 | Q9UJM3 | protein_coding | | | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
ERRFI1 | insertion | Nonsense_Mutation | novel | c.146_147insTTTTCCCCTGTGCCCCTCTTTGTGAACGGG | p.Pro49_Ile50insPheProLeuCysProSerLeuTerThrGly | p.P49_I50insFPLCPSL*TG | Q9UJM3 | protein_coding | | | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
ERRFI1 | SNV | Missense_Mutation | novel | c.1291G>A | p.Gly431Ser | p.G431S | Q9UJM3 | protein_coding | tolerated_low_confidence(0.56) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ERRFI1 | SNV | Missense_Mutation | rs781338553 | c.1358G>A | p.Arg453His | p.R453H | Q9UJM3 | protein_coding | deleterious_low_confidence(0) | benign(0.054) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ERRFI1 | SNV | Missense_Mutation | rs746056102 | c.731N>A | p.Arg244Gln | p.R244Q | Q9UJM3 | protein_coding | deleterious(0.01) | benign(0.081) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ERRFI1 | SNV | Missense_Mutation | novel | c.763N>C | p.Gly255Arg | p.G255R | Q9UJM3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-A02W-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ERRFI1 | SNV | Missense_Mutation | rs779337445 | c.1227N>T | p.Lys409Asn | p.K409N | Q9UJM3 | protein_coding | deleterious(0) | possibly_damaging(0.796) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |